immunodeficiency 60

Term ID

DOID:0111954

Synonyms

• BACH2-related immunodeficiency and autoimmunity
• BRIDA
• IMD60

Definition

A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. https://pubmed.ncbi.nlm.nih.gov/28530713/

References

• OMIM:618394
• UMLS_CUI:C5193072

Ontology

Human Disease   ( DOID:0111954 )